SETD5 Antibody, Biotin conjugated

1. Review mapped the clinical phenotypes of 42 individuals carrying mutations on the SETD5 gene, with 23.8% presenting autistic-like features. Most of mutations occurred between positions 9,480,000-9,500,000 bp on chromosome 3 (3p25.3) at the SETD5 gene locus. In all males, mutations in SETD5 presented high penetrance, while in females the clinical phenotype seems more variable. PMID: 29484850
2. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. PMID: 27375234
3. SETD5 frameshift mutation identified in a patient with mild intellectual disability. PMID: 28549204
4. SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability. PMID: 25138099
5. miR126-5p is a functional, endothelial-enriched microRNA that participates in the control of leucocyte trafficking by regulating the expression of ALCAM and SetD5. PMID: 24562769
6. analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of intellectual disability PMID: 24680889

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HGNC: 25566

OMIM: 615743

KEGG: hsa:55209

STRING: 9606.ENSP00000383939

UniGene: Hs.288164